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FLASH GENE

Symbol

EDIL3

contributors: mct/npt - updated : 11-04-1201

HGNC name	EGF-like repeats and discoidin I-like domains 3
HGNC id	3173

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q14.3      Physical location : 83.238.125 - 83.680.611
Synonym name	development endothelial locus 1
	developmentally-regulated endothelial cell locus 1 protein
	integrin-binding protein DEL1
Synonym symbol(s)	DEL1, MGC26287

DNA

TYPE	functioning gene
STRUCTURE	442.50 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005711 11 - 2974 NP_005702 53.6 480 - Aoka (2002)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Skeleton appendicular joint

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte

cell lineage	initially, in the endothelial progenitor
cell lines
fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	mesenchymal cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three epidermal growth factor repeats (E1-E3) at its N-terminus
	a RGD motif
	two discoidin domains (C1, C2) at its C-terminus, contributing to its deposition in the extracellular matrix (Hidai 2007)
	a Del1 deposition domain (DDD), that could immobilize an enzyme in the ECM without interfering with function (Hidai 2009)

HOMOLOGY

interspecies

homolog to murine Del1

Homologene

FAMILY

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
text	in the extracellular matrix (Hidai 2007)
	organized in the extracellular matrix (ECM) via the Del1 deposition domain (DDD) (Hidai 2009)

basic FUNCTION	promoting the adhesion of endothelial cells through interaction with the AVB3 integrin receptor
	putative regulator of vascular morphogenesis or remodeling in embryonic development
	mediates cell attachment, migration, and activation of cytoplasmic signaling molecules in focal contacts (Aoka 2002)
	acts as an angiogenic factor in the context of solid tumor formation and this increase in vascularization accelerates tumor growth through decreased apoptosis (Aoka 2002)
	endogenous inhibitor of inflammatory cell recruitment that could provide a basis for targeting leukocyte-endothelial interactions in disease (Choi 2008)
	may induce apoptosis via its epidermal growth factor motif (Kitano 2010)
	EDIL3, AMOT and ECM1 are involved in the excessive angiogenesis and vasodilation observed in psoriasis

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

unique alpha V beta 3 integrin ligand that is produced by endothelial cells, and thus provides an autocrine signaling pathway in this cell type (Aoka 2002), and play an important role in the process of tumor cells moving from the original place (Niu 2007)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     recurring copy-number variants in congenital heart disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS